CCDC103 (coiled-coil domain containing 103)

2014-11-01  

Identity

HGNC
CCDC103
LOCATION
17q21.31
LOCUSID
388389
ALIAS
CILD17,PR46b,SMH
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 388389
MIM: 614677
HGNC: 32700
Ensembl: ENSG00000167131

Variants:

dbSNP: 388389
ClinVar: 388389
TCGA: ENSG00000167131
COSMIC: CCDC103

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000167131ENST00000357776F8W6J8
ENSG00000167131ENST00000410006Q8IW40
ENSG00000167131ENST00000410027Q8IW40
ENSG00000167131ENST00000417826Q8IW40
ENSG00000167131ENST00000577339J3KSE5

References

Pubmed IDYearTitleCitations
352597822022A recurrent homozygous missense mutation in CCDC103 causes asthenoteratozoospermia due to disorganized dynein arms.7
352597822022A recurrent homozygous missense mutation in CCDC103 causes asthenoteratozoospermia due to disorganized dynein arms.7
318587192020The outer dynein arm assembly factor CCDC103 forms molecular scaffolds through multiple self-interaction sites.5
318587192020The outer dynein arm assembly factor CCDC103 forms molecular scaffolds through multiple self-interaction sites.5
312735832019Characterization of CCDC103 expression profiles: further insights in primary ciliary dyskinesia and in human reproduction.19
312735832019Characterization of CCDC103 expression profiles: further insights in primary ciliary dyskinesia and in human reproduction.19
287901792018High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations.37
287901792018High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations.37
261235682015A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder.8
261235682015A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder.8
225812292012CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms.121
225812292012CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms.121

Citation

Dessen P

CCDC103 (coiled-coil domain containing 103)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

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